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Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth +2 more
wiley +1 more source

An overview of knot Floer homology

, 2017
Knot Floer homology is an invariant for knots discovered by the authors and, independently, Jacob Rasmussen. The discovery of this invariant grew naturally out of studying how a certain three-manifold invariant, Heegaard Floer homology, changes as the ...
Ozsvath, Peter, Szabo, Zoltan
core +1 more source

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors

BMC Cancer
Background Liquid biopsy assays using cerebrospinal fluid (CSF) can revolutionize care for children with central nervous system (CNS) tumors by enabling precise monitoring of therapeutic responses and detecting recurrence or measurable residual disease ...
Anthony R. Miller +26 more
doaj +1 more source

Rasmussen Encephalitis

Pediatric Neurology Briefs, 1990
Immunological abnormalities associated with chronic encephalitis, epilepsy, and progressive hemiplegia in a three-year, nine-month old girl are reported from the University of Utah School of Medicine and the Primary Children's Medical Center, Salt Lake ...
J Gordon Millichap
doaj +1 more source

Fusion multiplicities as polytope volumes: N-point and higher-genus su(2) fusion

, 2001
We present the first polytope volume formulas for the multiplicities of affine fusion, the fusion in Wess-Zumino-Witten conformal field theories, for example. Thus, we characterise fusion multiplicities as discretised volumes of certain convex polytopes,
Berenstein +16 more
core +3 more sources

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley +1 more source

Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing

Scientific Reports
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported,
Michelle A. Wedemeyer +11 more
doaj +1 more source

In vitro generated macrophages reflect the immunosuppressive phenotype of in vivo glioblastoma-associated macrophages

OncoImmunology
Glioblastoma (GBM) is the most common primary central nervous system tumor with a dismal prognosis and limited treatment options. Recent success utilizing immunotherapies for treating other solid tumors have been largely unsuccessful in GBM.
Matthew Nazzaro +8 more
doaj +1 more source

Nano‐Gs‐Protein Peptidomimetika: Rationales Design von Peptiden, die vom C‐Terminus von Gα abgeleitet sind und Schlüsselkomponenten der Gs‐β2AR‐Wechselwirkungen nachahmen

Angewandte Chemie, EarlyView.
G Protein‐gekoppelte Rezeptoren (GPCRs) sind wichtige therapeutische Zielstrukturen. Die Modulation der GPCR‐Aktivität über intrazelluläre Bindungsstellen gewinnt zunehmend an Bedeutung. Ein strukturell und computergestützter Ansatz ermöglichte die Entwicklung kleiner, vom G Protein abgeleiteter Peptidomimetika, die gezielt an die intrazelluläre ...
Phuong Thu Tran +11 more
wiley +1 more source

humans
encephalitis
3. good health

medicine
male
epilepsy

genetics
diagnosis, differential
magnetic resonance imaging